Status:
COMPLETED
Comparison of the Non-invasive Approach and Fetal Exome Sequencing in Prenatal Diagnosis When Fetal Ultrasound Signs Are Discovered
Lead Sponsor:
Centre Hospitalier Universitaire Dijon
Conditions:
Antenatal Congenital Malformations
Eligibility:
All Genders
18+ years
Phase:
NA
Brief Summary
The discovery of congenital malformations and/or non-specific signs by ultrasound (5% of pregnancies) represents a real medical challenge. Their prognosis is variable depending on the underlying etiol...
Eligibility Criteria
Inclusion
- Pregnant women with prenatal discovery of fetal malformations on ultrasound that may justify the performance of a fetal exome sequencing (e.g., multiple malformations and/or severe brain malformation, microphthalmia, bone damage, severe cardiac damage, etc.) who will have or are having an invasive prenatal sample for array CGA diagnosis and for which the results of the ES could change the outcome of the pregnancy
- Sufficient quantity of fetal sample (amniotic fluid or fetal blood or fetal DNA) for the collection of an additional sample for the ES
- Ability to collect blood samples from the pregnant woman and the biological father of the fetus (peripheral blood)
- Pregnant woman and father of the fetus aged ≥18 years
- Pregnant woman and father of the fetus able to comprehend the situation
- Person who has provided written consent
Exclusion
- \- Refusal of the pregnant woman or biological father to participate in the study
- Pregnancy before 11 weeks of amenorrhea or after 34 weeks of amenorrhea (to limit the risk of reporting results after birth)
- Pregnant women and/or biological fathers who are not affiliated to the national health insurance systel
- Pregnant women and/or biological fathers under some type of legal protection (guardianship, trusteeship, etc.)
- Pregnant women and/or biological fathers who are unable to express their consent
- Organizational study:
- In addition to the inclusion \& exclusion criteria of the main study:
- Pregnant woman and/or biological father of fetus who provided oral consent to be interviewed
- Professionals (obstetrician, midwife, geneticist, biologist) willing to be interviewed or participate in a focus group
Key Trial Info
Start Date :
March 8 2022
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
March 14 2024
Estimated Enrollment :
75 Patients enrolled
Trial Details
Trial ID
NCT05182242
Start Date
March 8 2022
End Date
March 14 2024
Last Update
February 20 2025
Active Locations (1)
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1
CHU Dijon Bourgogne
Dijon, France